Prof Philip Beales

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Name: Philip Beales Email: p.beales@ucl.ac.uk
Title: Prof Tel: 020 7905 2277
Department: ICH Genetics & Genomic Medicine Prog Fax:
Position: Professor of Medical and Molecular Genetics Address: Institute of Child Health, UCL, 30 Guildford Street, London, WC1N 1EH
Research Domain: Basic Life Sciences, Neuroscience, Populations & Lifelong Health Web Page: Personal Web Page

Profile

Research Description

Primary cilia, once considered vestigial organelles are now revealing themselves as crucial cellular components for cellular signalling and are capable of sensing their enivronment. A number of developmental pathways including Hedgehog and Wnt signalling require an intact cilium. Dysfunction of this signalling process can result in diseases of the retina, kidney, endocrine system, skeleton and nervous system. Many long described syndromes are now being ascribed to cilia pathogenetic lesions are are grouped as the ciliopathies. Many of these syndromes manifest cognitive impairment as well as disordered peripheral nervous system and sensory reception. We have been focussing on several of these diseaes and one in particular, Bardet-Biedl syndrome has been informing us of novel roles for the primary cilium. For example by generating animal models we have determined there are defects in olfactory responses, nociception, satiety (leading to gross obesity) and mental retardation. One of our key goals is to understand the role of primary cilia present on all neurones in learning disability and and cell-cell signalling.

Research Activities

Biology of renal and urinary tract malformations,

Blinding diseases (genetics and mechanisms)

Ciliopathies, cilia

Genetic and Developmental Genetics of Human Birth Defects

Mechanisms underlying morphogenetic movements

Normal and abnormal development of the neuromuscular components of the gut

Role of gap junctions and regulatory proteins in the long-term maintenance of hearing.

The role of primary cilia in disease pathogenesis

Education Description

UCL Collaborators

Prof Peter Scambler; Dr Kevin Mills; Prof Stephen Hart; Dr Paul Winyard; Prof Alison Hardcastle; Prof David Becker; Prof Mike Cheetham; Dr Mike Hubank; Dr Masazumi Tada; Prof Therese Hesketh; Prof Raoul Hennekam; Dr Dan Jagger; Prof Andrew Forge; Prof Tony Moore; Prof Steve Wilson; Prof Andrew Webster; Dr Maryse Bailly; Prof Mark Lythgoe; Prof Christopher O'callaghan; Prof Christiana Ruhrberg; Prof Susan Povey; Dr Hannah Mitchison; Dr Eddie Chung; Dr Nikhil Thapar; Dr Alan Burns

External Collaborators

Professor Robert Hofstra; Dr Allan Goldstein; Professor Wood Yee Chan

Publications

    2013

    • Beales P, Jackson PK (2013). Our thanks to Cilia's reviewers.. Cilia, 2(1), 4 - . doi:10.1186/2046-2530-2-4
    • Mahmood F, Mozere M, Zdebik AA, Stanescu HC, Tobin J, Beales PL, Kleta R, Bockenhauer D, Russell C (2013). Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome. Disease Models & Mechanisms, 6(3), 652 - 660. doi:10.1242/dmm.009480
    • Schmidts M, Arts HH, Bongers EMHF, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema J-BL, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg E-J, Elcioglu N, van Maarle MC, Graul-Neumann L, Devriendt K, Smithson S, Wellesley D, Verbeek NE, Hennekam RCM, Kayserili H, Scambler PJ, Beales PL, UK10K , Knoers NVAM, Roepman R, Mitchison HM (2013). Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Journal of Medical Genetics, 50(5), 309 - 323. doi:10.1136/jmedgenet-2012-101284

    2012

    • Schmidts M, Arts HH, Yap Z, Bongers EMHF, Anthony D, Oud MM, al Turki S, Duijkers L, Stalker J, Yntema JBL, Hoischen A, Gilissen C, Veltman J, Hurles ME, Kamsteeg EJ, Scambler P, Beales PL, Knoers NVAM, Roepman R, Mitchison HM (2012). Mutations in DYNC2H1 are common in Jeune Asphyxating Thoracic Dysplasia (JATD) without extraskeletal features while IFT140 mutations cause JATD with renal involvement.
    • Lescai F, Osinska J, Brooks T, Hubank M, Stupka E, Bacchelli C, Chanudet E, Beales P, Bonfiglio S, Waters A, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Hussain K, Sowden J, Kinsler V, Sisodiya SM, Kasperavičiute D, Hardy J, Houlden H, Wood N, Sheerin U, Williams J, Harold D, Kelsell D, Vulliamy T, Tonini GP, Mackay D (2012). Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes. PLoS ONE, 7(12), - . doi:10.1371/journal.pone.0051292
    • Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR (2012). Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.. Nat Genet, 44(4), 381 - S2. doi:10.1038/ng.1106
    • Selman L, Henriksen ML, Brandt J, Palarasah Y, Waters A, Beales PL, Holmskov U, Jorgensen TJD, Nielsen C, Skjodt K, Hansen S (2012). An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1). JOURNAL OF IMMUNOLOGICAL METHODS, 375(1-2), 182 - 188. doi:10.1016/j.jim.2011.10.010
    • Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM (2012). Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.. Am J Hum Genet, 90(5), 864 - 870. doi:10.1016/j.ajhg.2012.03.006
    • Beales P, Jackson PK (2012). Cilia - the prodigal organelle.. Cilia, 1(1), 1 - . doi:10.1186/2046-2530-1-1
    • Twigg SRF, Lloyd D, Wilkie AOM, Jenkins D, Beales PL, Elçioglu NE, Cooper CDO, Gileadi O, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJL, Goodship JA, Keavney BD, McGowan SJ (2012). Mutations in multidomain protein MEGF8 identify a carpenter syndrome subtype associated with defective lateralization. American Journal of Human Genetics, 91(5), 897 - 905. doi:10.1016/j.ajhg.2012.08.027
    • Forsythe E, Sparks K, Huda MSB, Hazlehurst J, Muajhid S, Carroll P, McGowan B, Tomlinson JW, Mohammed S, Beales PL (2012). Genotype-phenotype correlation in Bardet-Biedl Syndrome.

    2011

    • Coon BG, Madhivanan K, Hernandez V, Mukherjee D, Hanna CB, Lowe M, Beales P, Aguilar C (2011). The Oculo-Cerebro-Renal Syndrome of Lowe as a Ciliopathy: Role of Ocrl1 in Primary Cilia Assembly.
    • Schmidts M, Osborn D, Beales P (2011). A highthrouput screen for new therapeutic approaches in polycystic kidney disease using a zebrafish model system. PEDIATR NEPHROL, 26(9), 1682 - 1683.
    • Beales P (2011). The clinical and genetic management of Bardet-Biedl Syndrome.
    • Waters A, Lescai F, Christou S, Chanudet E, Charu D, Kleta R, Hubank M, Stupka E, Winey M, Beales P (2011). Whole exome sequencing identifies the genetic cause of a new ciliopathy syndrome. PEDIATR NEPHROL, 26(9), 1574 - 1575.
    • Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL (2011). Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.. Nat Genet, 43(3), 197 - 203. doi:10.1038/ng.757
    • Rix S, Calmont A, Scambler PJ, Beales PL (2011). An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.. Hum Mol Genet, 20(7), 1306 - 1314. doi:10.1093/hmg/ddr013
    • Middleton D, Jones J, Howse M, Beales P, Wong CS, Hammad A (2011). SINGLE ANTIGEN BEAD (SAB)(NORMAL AND "CLEAN" BEADS) MFI THRESHOLD FOR DONOR SPECIFIC ANTIGEN (DSA), COMPARED TO FLOW AND CYTOTOXIC CROSSMATCH RESULT.
    • Coon BG, Madhivanan K, Hernandez V, Mukherjee D, Hanna CB, Lowe M, Beales P, Aguilar C (2011). The Oculo-Cerebro-Renal Syndrome of Lowe as a Ciliopathy: Role of Ocrl1 in Primary Cilia Assembly..
    • Cho M, Beales P, Hind M, Quinlan R (2011). THE RESPIRATORY PHENOTYPE OF THE BBS4 NULL MOUSE LUNG. doi:10.1136/thoraxjnl-2011-201054c.247
    • Baker K, Northam GB, Chong WK, Banks T, Beales P, Baldeweg T (2011). Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome.. Am J Med Genet A, 155A(1), 1 - 8. doi:10.1002/ajmg.a.33773
    • Slavotinek A, Beales P (2011). Clinical utility gene card for: Bardet-Biedl syndrome.. Eur J Hum Genet, 19(3), - . doi:10.1038/ejhg.2010.199

    2010

    • Baker K, Northam GB, Chong WK, Banks T, Beales P, Baldeweg T (2010). Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome.. Am J Med Genet A, , - . doi:10.1002/ajmg.a.33773
    • May-Simera HL, Kai M, Hernandez V, Osborn DP, Tada M, Beales PL (2010). Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish.. Dev Biol, 345(2), 215 - 225. doi:10.1016/j.ydbio.2010.07.013
    • Font AD, Moore AT, Hardcastle AJ, Beales PL (2010). Mutations in X-linked RPGR can modify the Bardet-Biedl Syndrome phenotype by altering RPGR protein levels.
    • Osborn D, Christou S, Mukherjee S, Ferrante M, Roccasecca R, Barosso I, Stemple D, Beales PL (2010). A novel role for the obesity-associated gene FTO in beta-Catenin stabilisation and ciliogenesis.
    • van Haelst MM, Wang R, Kantaputra PN, Palmer R, Beales P (2010). Corrigendum to Obesity Syndrome, MOMES Caused by Deletion-Duplication (4q35.1 del and 5p14.3 Duplication) AJMG Part A, 2009; 149(4): 833-834.. Am J Med Genet A, 152A(7), 1874 - . doi:10.1002/ajmg.a.33333
    • Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F (2010). Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.. J Med Genet, 47(4), 262 - 267. doi:10.1136/jmg.2009.071365
    • Hernandez V, Beales PL (2010). Ciliopathy-related BBS proteins regulate the actin cytoskeleton independent of ciliary function.
    • Hernandez V, Beales PL (2010). mTOR inhibition reduces Bbs mouse obesity.
    • Rix S, Hernandez V, Scambler P, Beales PL (2010). A hypomorphic Ift80 genetrap mouse line phenocopies short rib polydactyly syndromes owing to defects in hedgehog signalling.

    2009

    • Pearson CG, Osborn DPS, Giddings TH, Beales PL, Winey M (2009). Basal body stability and ciliogenesis requires the conserved component Poc1. Journal of Cell Biology, 187(6), 904 - 920.
    • Beales P (2009). Cellular antennae: The role of primary cilia in human disease. doi:10.1016/j.mod.2009.06.988
    • Quinlan R, Hind M, Beales P (2009). The role of BBS proteins in lung development. Mechanisms of Development, 126, S266 - S266.
    • Tobin JL, Beales PL (2009). The nonmotile ciliopathies. Genetics in Medicine, 11(6), 386 - 402.
    • van Haelst MM, Wang R, Kantaputra PN, Palmer R, Beales P (2009). Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup). Am J Med Genet A, 149A(4), 833 - 834.
    • May-Simera HL, Ross A, Rix S, Forge A, Beales PL, Jagger DJ (2009). Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions. J Comp Neurol, 514(2), 174 - 188. doi:10.1002/cne.22001
    • Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, Macdonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attie-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N (2009). A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat.Genet., , - .
    • de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J (2009). Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.. Proc Natl Acad Sci U S A, 106(33), 13921 - 13926. doi:10.1073/pnas.0901219106

    2008

    • Tobin JL, Beales PL (2008). Restoration of renal function in zebrafish models of ciliopathies. Pediatric Nephrology, 23(11), 2095 - 2099.
    • Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, az-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N (2008). Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics, 40(4), 443 - 448.
    • Goldstone AP, Beales PL (2008). Genetic obesity syndromes. Obesity and Metabolism, 36, 37 - 60.
    • Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL (2008). Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America, 105(18), 6714 - 6719. doi:10.1073/pnas.0707057105

    2007

    • Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ (2007). IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature Genetics, 39(6), 727 - 729. doi:10.1038/ng2038
    • de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin J-L, Moal FD-L, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J (2007). Eplistatic interactions with a conunon hypomorphlic ret allele in syndromic Hirschsprung disease. HUMAN MUTATION, 28(8), 790 - 796. doi:10.1002/humu.20517
    • Coutinho-Silva R, Robson T, Beales P, Burnstock G (2007). Changes in expression of P2X7 receptors in NOD mouse pancreas during the development of diabetes. Autoimmunity, 40(2), 108 - 116.

    2006

    • Hill J, Beales P (2006). Inversin Is Dependent on Bbs4 for Basal Body and Cilial Localisation. MOL BIOL CELL, 17, - .
    • Ross A, May-Simera H, Eichers E, Kai M, Hill J, Jagger D, Leitch C, Chapple JP, Munro P, Fisher S, Tan P, Phillips H, Leroux M, Henderson D, Murdoch J, Copp A, Eliot MM, Lupski J, Kemp D, Dollfus H, Tada M, Katsanis N, Forge A, Beales P (2006). Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
    • Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Da SE, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, mati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H (2006). BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. NAT GENET, 38(5), 521 - 524.
    • Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N (2006). Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature, 439(7074), 326 - 330.
    • Eichers ER, bd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR (2006). Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Hum.Genet., 120(2), 211 - 226.
    • Beales PL (2006). Hedgehogs on the road to polarity. NAT GENET, 38(3), 277 - 279.
    • Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). The Ciliopathies: An Emerging Class of Human Genetic Disorders. ANNU REV GENOMICS HUM GENET, , - .
    • Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, mati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H (2006). Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. NAT GENET, 38(6), 727 - .
    • Beales PL (2006). Practical genetics series introduction: information overload, a double-edged sword. Eur.J.Hum.Genet., 14(8), 889 - .

    2005

    • Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL (2005). Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nature Genetics, 37(10), 1135 - 1140. doi:10.1038/ng1644
    • Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan SL, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F (2005). Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nature Genetics, 37(3), 282 - 288.
    • Beales PL (2005). Heteroduplex analysis. In (Ed.), Encyclopedia of Medical Genomics & Proteomics (pp. - ). : Marcel Dekker Inc..
    • Kim JC, Ou YY, Badano JL, Esmail MA, Leitch CC, Fiedrich E, Beales PL, Archibald JM, Katsanis N, Rattner JB, Leroux MR (2005). MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. Journal of Cell Science, 118(5), 1007 - 1020.
    • Fan YL, Green JS, Ross AJ, Beales PL, Parfrey PS, Davidson WS (2005). Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval. Human Genetics, 116(1-2), 62 - 71.
    • Beales PL (2005). Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Current Opinion in Genetics and Development, 15(3), 315 - 323.
    • Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS (2005). Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. AM J MED GENET A, 132(4), 352 - 360.

    2004

    • Hill J, Kim JC, Badano J, Sibold S, Esmail M, Hoskins B, Leitch C, Venner K, Ansley S, Ross A, Leroux M, Katsanis N, Beales P (2004). The familial obesity protein BBS4 targets PCM1 to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Genetical Research, 84(2), 124 - 124.
    • Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR (2004). Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. NAT GENET, 36(9), 989 - 993.
    • Beales PL (2004). The Bardet-Biedl Syndrome. In (Ed.), Encyclopedia of Endocrine Diseases (pp. - ). : Elsevier.
    • Blacque OE, Reardon MJ, Li CM, McCarthy J, Mahjoub MR, Ansley SJ, Badano LL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RHA, Baillie DL, Katsanis N, Quarmby LM, Wicks SR, Leroux MR (2004). Loss of C-elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes and Development, 18(13), 1630 - 1642.
    • Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N (2004). Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nature Genetics, 36(9), 994 - 998.
    • Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL (2004). The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nature Genetics, 36(5), 462 - 470. doi:10.1038/ng1352
    • Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, Beales PL, Guay-Woodford LM, Yoder BK, Stormo GD, Katsanis N, Dutcher SK (2004). Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell, 117(4), 541 - 552.
    • Fan Y, Green JS, Ross AJ, Beales PL, Parfrey PS, Davidson WS (2004). Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval. Human Genetics, , - .

    2003

    • Grace C, Beales P, Summerbell C, Jebb SA, Wright A, Parker D, Kopelman P (2003). Energy Metabolism in Bardet-Biedl syndrome. International Journal of Obesity, 27(11), 1319 - .
    • Beales P, Ansley SJ, Hoskins BE, Badano JL, Ross A, Eichers ER, Hill J, Lewis RA, Scambler PJ, Davidson WS, Katsanis N, Lupski JR (2003). Bridging the gap between monogenic and multifactorial disease: the Bardet-Biedl syndrome.
    • Beales PL, Parfrey PS, Katsanis N (2003). The Bardet-Biedl and Alstrom Syndromes. In Maher F, Saggar M (Ed.), The Genetics of Renal Disease (pp. - ). : Oxford University Press.
    • Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N (2003). Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Human Molecular Genetics, 12(14), 1 - 9.
    • Hammond P, Hindocha N, Hutton TJ, Beales PL (2003). 3D dense surface modeling defines a characteristic facial phenotype in Bardet-Biedl syndrome.
    • Hoskins BE, Thorn A, Scambler PJ, Beales PL (2003). Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. Human Mutation, 22(2), 151 - 157.
    • Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Kim JC, Ross AJ, Lewis RA, Mah AK, Johnsen RC, Cavender JC, Leroux MR, Beales PL, Katsanis N (2003). Basal body dysfunction is a likely cause of pleiotropic Bardet Biedl syndrome. Nature, 425(6958), 628 - 633. doi:10.1038/nature02030
    • Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N (2003). Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. The American Journal of Human Genetics, 72(5), 1187 - 1199.

    2002

    • Barnett S, Reilly S, Carr L, Ojo I, Beales PL, Charman T (2002). Behavioural phenotype of Bardet-Biedl syndrome. Journal of Medical Genetics, 39(12), 76 - 76.
    • Beales PL (2002). Paediatric history-taking and examination. In Dacre J, Kopelman P (Ed.), Handbook of Clinical Skills (pp. 289 - 310). : Manson.
    • (2002). BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. The American Journal of Human Genetics, 71(1), 22 - 29.

    2001

    • (2001). Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science, 293(5538), 2256 - 2259. doi:10.1126/science.1063525

    2000

    • Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR (2000). Mutation in MKKS cause obesity, retinal dystropy and renal malformation associated with Bardet-Biedl syndrome. Nature Genetics, 26, 67 - 70.
    • Beales PL, Reid HAS, Griffiths MH, Maher ER, Flinter FA, Woolf AS (2000). Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. NEPHROLOGY DIALYSIS TRANSPLANTATION, 15(12), 1977 - 1985.

    1999

    • Beales PL, Woolf AS, Reid HAS, Griffiths MH, Flinter FA (1999). Renal cancers and malformations in relatives of patients with Bardet- Biedl syndrome. Kidney International, 55, 2574 - 2575.
    • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999). New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. Journal of Medical Genetics, 36, 437 - 446.
    • Adra CN, Mao XQ, Kawada H, Gao PS, Korzycka B, Donate JL, Shaldon SR, Coull P, Dubowitz M, Enomoto T, Ozawa A, Syed SA, Horiuchi T, Khaeraja R, Khan R, Lin SR, Flinter F, Beales P, Hagihara A, Inoko H, Shirakawa T, Hopkin JM (1999). Chromosome 11q13 and atopic asthma.. Clin Genet, 55(6), 431 - 437.

    1996

    • Beales P, Kopelman P, Vijayaraghavan S, Hitman G (1996). The molecular genetics of obesity.

    1994

    • Beales P, Almond MK, Kwan JT (1994). Acyclovir neurotoxicity following oral therapy: prevention and treatment in patients on haemodialysis.. Nephron, 66(3), 362 - 363.